Genetic Considerations in Hypertrophic Cardiomyopathy

被引：23

作者：

Ho, Carolyn Y. ^{[1
]}

机构：

[1] Brigham & Womens Hosp, Div Cardiovasc, Boston, MA 02115 USA

来源：

PROGRESS IN CARDIOVASCULAR DISEASES | 2012年 / 54卷 / 06期

基金：

美国国家卫生研究院;

关键词：

Genetics; Hypertrophy; Cardiomyopathy; FIBROSIS;

D O I：

10.1016/j.pcad.2012.03.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy that develops in the absence of pressure overload or storage/infiltrative processes. Approximately 20 years ago, mutations in genes encoding sarcomere proteins were identified as the cause of HCM. Although there are limitations to current clinical application, genetic testing can identify the specific gene mutation responsible for causing HCM in patients and their family. This provides a definitive means to identify at-risk relatives, as well as new opportunities to study pathogenesis, and developing novel strategies for disease prevention and modification. © 2012 Elsevier Inc.

引用

页码：456 / 460

页数：5

共 15 条

[1] Glycogen storage diseases presenting as hypertrophic cardiomyopathy [J].

Arad, M ;

Maron, BJ ;

Gorham, JM ;

Johnson, WH ;

Saul, JP ;

Perez-Atayde, AR ;

Spirito, P ;

Wright, GB ;

Kanter, RJ ;

Seidman, CE ;

Seidman, JG .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (04) :362-372

[2] Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy [J].

Crilley, JG ;

Boehm, EA ;

Blair, E ;

Rajagopalan, B ;

Blamire, AM ;

Styles, P ;

McKenna, WJ ;

Östman-Smith, I ;

Clarke, K ;

Watkins, H .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2003, 41 (10) :1776-1782

[3] An abnormal Ca2+ response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy [J].

Fatkin, D ;

McConnell, BK ;

Mudd, JO ;

Semsarian, C ;

Moskowitz, IGP ;

Schoen, FJ ;

Giewat, M ;

Seidman, CE ;

Seidman, JG .

JOURNAL OF CLINICAL INVESTIGATION, 2000, 106 (11) :1351-1359

[4]

Gersh BJ, 2011, CIRCULATION

[5] Clinical Features and Outcome of Hypertrophic Cardiomyopathy Associated With Triple Sarcomere Protein Gene Mutations [J].

Girolami, Francesca ;

Ho, Carolyn Y. ;

Semsarian, Christopher ;

Baldi, Massimo ;

Will, Melissa L. ;

Baldini, Katia ;

Torricelli, Francesca ;

Yeates, Laura ;

Cecchi, Franco ;

Ackerman, Michael J. ;

Olivotto, Iacopo .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2010, 55 (14) :1444-1453

[6] Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy [J].

Ho, Carolyn Y. ;

Lopez, Begona ;

Coelho-Filho, Otavio R. ;

Lakdawala, Neal K. ;

Cirino, Allison L. ;

Jarolim, Petr ;

Kwong, Raymond ;

Gonzalez, Arantxa ;

Colan, Steven D. ;

Seidman, J. G. ;

Diez, Javier ;

Seidman, Christine E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2010, 363 (06) :552-563

[7] Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy [J].

Ho, CY ;

Sweitzer, NK ;

McDonough, B ;

Maron, BJ ;

Casey, SA ;

Seidman, JG ;

Seidman, CE ;

Solomon, SD .

CIRCULATION, 2002, 105 (25) :2992-2997

[8]

HOLLMAN A, 1960, BRIT HEART J, V22, P449

[9]

Konno T., 2010, Curr Opin Cardiol

[10] Electrocardiographic Features of Sarcomere Mutation Carriers With and Without Clinically Overt Hypertrophic Cardiomyopathy [J].

Lakdawala, Neal K. ;

Thune, Jens Jakob ;

Maron, Barry J. ;

Cirino, Allison L. ;

Havndrup, Ole ;

Bundgaard, Henning ;

Christiansen, Michael ;

Carlsen, Christian M. ;

Dorval, Jean-Francois ;

Kwong, Raymond Y. ;

Colan, Steven D. ;

Kober, Lars V. ;

Ho, Carolyn Y. .

AMERICAN JOURNAL OF CARDIOLOGY, 2011, 108 (11) :1606-1613

← 1 2 →